Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/T|Ancestral: G|Ambiguity code: K|MAF: < 0.01 (T)
Location

Chromosome 7:30969116 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960736

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2341

HGVS names

This variant has 3 HGVS names - Hide

7:g.30969116G>T
ENST00000326139.6:c.214G>T
ENSP00000320180.2:p.Glu72Ter

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays